{
    "disease_id": "DOID:0111499",
    "recommended_name": {
        "id": "DOID:0111499",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111499",
        "name": "combined oxidative phosphorylation deficiency 37",
        "description": "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111499",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111499",
            "name": "COXPD37",
            "description": ""
        },
        {
            "id": "MONDO:0032679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032679",
            "name": "combined oxidative phosphorylation deficiency 37",
            "description": ""
        },
        {
            "id": "MONDO:0032679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032679",
            "name": "COXPD37",
            "description": ""
        },
        {
            "id": "MIM:618329",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618329",
            "name": "Combined oxidative phosphorylation deficiency 37",
            "description": "Combined oxidative phosphorylation deficiency 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111499"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111499",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111499",
            "categories": []
        },
        {
            "id": "MONDO:0032679",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032679",
            "categories": []
        },
        {
            "id": "MIM:618329",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618329",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LUK1-1",
            "uniprot_ac": "Q1LUK1",
            "uniprot_id": "MIC13_DANRE",
            "refseq_ac": "NP_001038338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "recommended"
                },
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "synonym"
                },
                {
                    "name": "protein QIL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "micos13",
                    "type": "recommended"
                },
                {
                    "name": "im:7151185",
                    "type": "synonym"
                },
                {
                    "name": "mic13",
                    "type": "synonym"
                },
                {
                    "name": "micos13",
                    "type": "synonym"
                },
                {
                    "name": "qil1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-78l4.14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LUK1-1",
            "evidence": [
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R404-1",
            "uniprot_ac": "Q8R404",
            "uniprot_id": "MIC13_MOUSE",
            "refseq_ac": "NP_694792",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "recommended"
                },
                {
                    "name": "MICOS complex subunit MIC13 precursor",
                    "type": "synonym"
                },
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "synonym"
                },
                {
                    "name": "protein QIL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Micos13",
                    "type": "recommended"
                },
                {
                    "name": "2410015M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mic13",
                    "type": "synonym"
                },
                {
                    "name": "Micos13",
                    "type": "synonym"
                },
                {
                    "name": "QIL1",
                    "type": "synonym"
                },
                {
                    "name": "Qil1",
                    "type": "synonym"
                },
                {
                    "name": "sr104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R404-1",
            "evidence": [
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XKP0-1",
            "uniprot_ac": "Q5XKP0",
            "uniprot_id": "MIC13_HUMAN",
            "refseq_ac": "NP_001295169",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "recommended"
                },
                {
                    "name": "MICOS complex subunit MIC13 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "synonym"
                },
                {
                    "name": "Protein P117",
                    "type": "synonym"
                },
                {
                    "name": "protein QIL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MICOS13",
                    "type": "recommended"
                },
                {
                    "name": "C19orf70",
                    "type": "synonym"
                },
                {
                    "name": "MIC12",
                    "type": "synonym"
                },
                {
                    "name": "MIC13",
                    "type": "synonym"
                },
                {
                    "name": "MICOS13",
                    "type": "synonym"
                },
                {
                    "name": "P117",
                    "type": "synonym"
                },
                {
                    "name": "QIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XKP0-1",
            "evidence": [
                {
                    "id": "618329",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618329"
                },
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R719-1",
            "uniprot_ac": "M0R719",
            "uniprot_id": "M0R719_RAT",
            "refseq_ac": "NP_001386131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "recommended"
                },
                {
                    "name": "MICOS complex subunit MIC13 precursor",
                    "type": "synonym"
                },
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Micos13",
                    "type": "recommended"
                },
                {
                    "name": "LOC301124",
                    "type": "synonym"
                },
                {
                    "name": "Micos13",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R719-1",
            "evidence": [
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVH3-1",
            "uniprot_ac": "Q9VVH3",
            "uniprot_id": "MIC13_DROME",
            "refseq_ac": "NP_648983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13 homolog QIL1",
                    "type": "recommended"
                },
                {
                    "name": "CG7603-PA",
                    "type": "synonym"
                },
                {
                    "name": "QIL1-PA",
                    "type": "synonym"
                },
                {
                    "name": "QIL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QIL1",
                    "type": "recommended"
                },
                {
                    "name": "CG7603",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7603",
                    "type": "synonym"
                },
                {
                    "name": "MIC13",
                    "type": "synonym"
                },
                {
                    "name": "QIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVH3-1",
            "evidence": [
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2T5-1",
            "uniprot_ac": "Q9W2T5",
            "uniprot_id": "Q9W2T5_DROME",
            "refseq_ac": "NP_001259422",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "MICOS complex subunit MIC13",
                    "type": "recommended"
                },
                {
                    "name": "CG15296-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT26906",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT26906",
                    "type": "synonym"
                },
                {
                    "name": "CG15296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15296",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2T5-1",
            "evidence": [
                {
                    "id": "0111499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111499"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111499"
}